A Rare Gene Mutation Disorder With Fever To Be Detected

Abstract

ROSAH syndrome(1) is an autosomal dominant disorder caused by mutations in ALPK1. Its clinical manifestations are mainly retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis and migraine. In this article, we aim to provide detailed information that will help further our understanding of the different symptoms and manifestations of ROSAH syndrome. It also emphasizes the importance of considering this disease in similar cases of fever of unknown etiology, such as recurrent periodic fever with splenomegaly and ocular disease.